Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Por um escritor misterioso
Last updated 08 setembro 2024
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Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
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Cornelia de Lange syndrome in diverse populations - Dowsett - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library
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Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases - Rimoldi - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
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Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect
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Wiedemann-Steiner Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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De Lange Syndrome
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Chromosome 5p13 Duplication Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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Cornelia de Lange syndrome in diverse populations - Dowsett - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library
![Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf](https://onlinelibrary.wiley.com/cms/asset/c67452c9-03a8-44bb-b985-49f4e3745ffe/ajmga63164-fig-0001-m.jpg)
Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? - Conti - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
![Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf](https://www.ncbi.nlm.nih.gov/books/NBK131811/bin/coffin-siris-Image001.gif)
Coffin-Siris Syndrome - GeneReviews® - NCBI Bookshelf
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X-linked Cornelia de Lange Syndrome - Remembering a dysmorphology case in Neonatology
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Annals of Child Neurology
![Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf](https://www.pediatricsresearchjournal.com/articles/images/JPPM-17-1115-Fig3.png)
X-linked Cornelia de Lange Syndrome - Remembering a dysmorphology case in Neonatology
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